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MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants

The diffusion of next-generation sequencing technologies has revolutionized research and diagnosis in the field of rare Mendelian disorders, notably via whole-exome sequencing (WES). However, one of the main issues hampering achievement of a diagnosis via WES analyses is the extended list of variant...

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Detalles Bibliográficos
Autores principales:	Chennen, Kirsley, Weber, Thomas, Lornage, Xavière, Kress, Arnaud, Böhm, Johann, Thompson, Julie, Laporte, Jocelyn, Poch, Olivier
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394404/ https://www.ncbi.nlm.nih.gov/pubmed/32735577 http://dx.doi.org/10.1371/journal.pone.0236962

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